Canonical Allele Identifier: CA2146470986

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73173581C= , CM000676.2:g.73173581C=	GRCh38
NC_000014.8:g.73640289C= , CM000676.1:g.73640289C=	GRCh37
NC_000014.7:g.72710042C=	NCBI36
NG_007386.2:g.42111C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.354C= MANE Select	ENSP00000326366.5:p.Phe118=
ENST00000324501.9:c.354C=	ENSP00000326366.5:p.Phe118=
ENST00000357710.8:c.342C=	ENSP00000350342.4:p.Phe114=
ENST00000394157.7:c.354C=	ENSP00000377712.3:p.Phe118=
ENST00000394164.5:c.342C=	ENSP00000377719.1:p.Phe114=
ENST00000406768.1:c.78C=	ENSP00000385948.1:p.Phe26=
ENST00000553719.5:c.342C=	ENSP00000451674.1:p.Phe114=
ENST00000553855.5:n.354C=	ENSP00000452242.1:p.Phe118=
ENST00000555254.5:c.354C=	ENSP00000450652.1:p.Phe118=
ENST00000555386.5:n.342C=	ENSP00000450845.1:p.Phe114=
ENST00000557356.5:c.342C=	ENSP00000451498.1:p.Phe114=
ENST00000557511.5:n.354C=	ENSP00000451429.1:p.Phe118=
ENST00000559361.5:c.*298C=	ENSP00000454156.1:n.*298C=
NM_000021.3:c.354C=	NP_000012.1:p.Phe118=
NM_007318.2:c.342C=	NP_015557.2:p.Phe114=
XM_005267864.1:c.354C=	XP_005267921.1:p.Phe118=
XM_005267866.1:c.342C=	XP_005267923.1:p.Phe114=
XM_011536971.1:c.354C=	XP_011535273.1:p.Phe118=
XM_011536972.1:c.354C=	XP_011535274.1:p.Phe118=
XM_011536973.1:c.342C=	XP_011535275.1:p.Phe114=
XM_011536974.1:c.342C=	XP_011535276.1:p.Phe114=
XM_005267864.3:c.354C=	XP_005267921.1:p.Phe118=
XM_005267866.2:c.342C=	XP_005267923.1:p.Phe114=
XM_011536972.2:c.354C=	XP_011535274.1:p.Phe118=
XM_011536973.2:c.342C=	XP_011535275.1:p.Phe114=
XM_011536974.2:c.342C=	XP_011535276.1:p.Phe114=
NM_000021.4:c.354C= MANE Select	NP_000012.1:p.Phe118=
NM_007318.3:c.342C=	NP_015557.2:p.Phe114=